Artículo especial

Revisiones panorámicas. Otra forma de revisión de la literaturaScoping reviews. Another way of literature review

Mutations in the genes called BRCA1 and BRCA2 are associated with significantly elevated lifetime risk of developing breast and ovarian cancer. This year marks 25 years since genetic tests for BRCA1/2 mutations became available to the public. Currently, comprehensive guidelines exist regarding BRCA1/2 testing and preventive measures in mutation carriers. As such, BRCA1/2 testing represents a precedent not only in genetic testing and management of genetic cancer risk, but also in bioethics. The goal of the current research was to offer a review and an ethical primer of the main ethical challenges related to BRCA testing.

A systematic scoping review was undertaken following the PRISMA Extension for Scoping Reviews (PRISMA-ScR). Four databases were searched and 18 articles that met the inclusion criteria were synthetized narratively into a conceptual map.

Ethical discussions revolved around the BRCA1/2 gene discovery, how tests are distributed for clinical use, the choice to undergo testing, unresolved issues in receiving and disclosing test results, reproductive decision-making, and culture-specific ethics. Several unique properties of the latest developments in testing circumstances (e.g., incorporation of BRCA1/2 testing in multi-gene or whole genome sequence panels and tests sold directly to consumers) significantly raised the complexity of ethical debates.

Multidisciplinary ethical discussion is necessary to guide not only individual decision making but also societal practices and medical guidelines in light of the new technologies available and the latest results regarding psychological, social, and health outcomes in cancer previvors and survivors affected by BRCA mutations.

En el momento presente, no se dispone de un tratamiento etiológico para el síndrome del intestino irritable y la modificación de la dieta, en particular la dieta baja en FODMAP (oligosacáridos, disacáridos, monosacáridos y polioles fermentables) se utiliza cada vez más para controlar los síntomas, si bien no se conocen su eficacia y seguridad reales. El objetivo de esta revisión panorámica es conocer si la dieta baja en FODMAP es realmente eficaz y segura a largo plazo en el manejo dietético de dicho síndrome. La revisión, siguiendo una metodología adecuada, se llevó a cabo con 25 estudios, que se recuperaron a texto completo. De todos ellos, 3 eran metaanálisis, 2 revisiones sistemáticas y 3 ambos tipos de estudio. El resto de los estudios eran, en general, de baja calidad metodológica y muy heterogéneos, con poco nivel de evidencia y bajo grado de recomendación. Puede concluirse que, en el corto plazo, la dieta baja en FODMAP tiene eficacia en la mayoría de los pacientes con síndrome de intestino irritable, por lo que podría apoyarse su uso como terapia de primera línea. Sin embargo, de todos los estudios, solamente uno fue prospectivo de seguimiento a largo plazo, entre 6 y 18 meses, con buenos resultados, por lo que se precisan más estudios de seguimiento, diseñados con este propósito, en los que se investiguen los efectos a largo plazo. De aconsejarse este tipo de dieta, debería hacerse dirigida por dietistas especializados.

At present, there is no aetiological treatment available for irritable bowel syndrome, and dietary modifications, particularly the low-FODMAP (monosaccharide, disaccharide, oligosaccharides and fermentable polyols) diet is increasingly used to control the symptoms of irritable bowel syndrome, although its actual efficacy and safety are unknown. The objective of this overview is to determine whether the low FODMAP diet is really effective and safe in the long term in the dietary management of irritable bowel syndrome. The review, following an appropriate methodology, was carried out with 25 studies, which were retrieved full text. Of these, 3 were meta-analyses, 2 were systematic reviews, and 3 were both types of studies. The rest of the studies were, in general, of low methodological quality and very heterogeneous, with a low level of evidence and low degree of recommendation. It can be concluded that, in the short term, the low-FODMAP diet is effective in most patients with irritable bowel syndrome, so its use as first-line therapy could be supported. However, of all the studies, only one was prospective for long-term follow-up, between 6 and 18 months, with good results. More follow-up studies, designed for this purpose, are needed to investigate long-term effects. Furthermore, if this type of diet is advised, it should be led by specialised dietitians.